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<!--
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UID=82880
|
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ConceptID=C0271561
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reduced circulating growth hormone concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82880</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0271561</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Growth hormone deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Growth hormone deficiency (397827003); GHD - Growth hormone deficiency (397827003); Growth hormone insufficiency (397827003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0034323">HP:0034323</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Concentration of growth hormone in the blood circulation below normal limits. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Reduced circulating growth hormone concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/871176" ref="tree=MeSH" title="MedGen record for Abnormal circulating hormone concentration">Abnormal circulating hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1703240" ref="tree=MeSH" title="MedGen record for Abnormal growth hormone level">Abnormal growth hormone level</a></span><ul><li><span class="matched_ds">Reduced circulating growth hormone concentration</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_90986"><div><strong>Ateleiotic dwarfism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90986</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated growth hormone deficiency type IA (IGHD1A) is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014). Genetic Heterogeneity of Isolated Growth Hormone Deficiency See IGHD1B (617281) and IGHD2 (173100), both caused by mutation in the GH1 gene; IGHD3 (307200), caused by mutation in the BTK gene (300300); and IGHD4 (618157), caused by mutation in the GHRHR gene (139191). Isolated growth hormone deficiency-5 (IGHD5) has been reclassified as combined pituitary hormone deficiency-7 (CPHD7; 618160).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90986">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_209236"><div><strong>Pituitary hormone deficiency, combined, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209236</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0878683</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of: growth hormone (GH); thyroid-stimulating hormone (TSH); the two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PrL); and occasionally adrenocorticotropic hormone (ACTH). At birth, in contrast to individuals with congenital CPHD of other etiologies, neonates with PROP1-related CPHD lack perinatal signs of hypopituitarism. Mean birth weights and lengths are usually within the normal range and neonatal hypoglycemia and prolonged neonatal jaundice are not prevalent findings. Most affected individuals are ascertained because of short stature during childhood. Although TSH deficiency can present shortly after birth, TSH deficiency usually occurs with or after the onset of GH deficiency. Hypothyroidism is usually mild. FSH and LH deficiencies are typically identified at the age of onset of puberty. Affected individuals can have absent or delayed and incomplete secondary sexual development with infertility. Untreated males usually have a small penis and small testes. Some females experience menarche but subsequently require hormone replacement therapy. ACTH deficiency is less common and, when present, usually occurs in adolescence or adulthood. Neuroimaging of hypothalamic-pituitary region usually demonstrates a hypoplastic or normal anterior pituitary lobe and a normal posterior pituitary lobe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209236">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323016"><div><strong>Fanconi anemia complementation group I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323016</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323016">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338532"><div><strong>Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356371"><div><strong>RHYNS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356371</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356371">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411242"><div><strong>Isolated growth hormone deficiency type IB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411242</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2748571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated growth hormone deficiency type IB (IGH1B) is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414421"><div><strong>Pituitary hormone deficiency, combined, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414421</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Reviews Voss and Rosenfeld (1992) reviewed the development and differentiation of the 5 pituitary cell types: galactotropes, gonadotropes, corticotropes, thyrotropes, and somatotropes. As indicated by the mutations in PIT1 described later, combined pituitary hormone deficiency can have either autosomal dominant or autosomal recessive inheritance, depending on the part of the PIT1 molecule affected by the mutation. Some mutations have a dominant-negative effect. Genetic Heterogeneity of Combined Pituitary Hormone Deficiency CPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037). CPHD7 (618160) is caused by mutation in the RNPC3 gene (618016). CPHD8 (620303) is caused by mutation in the ROBO1 gene (602430).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414421">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462790"><div><strong>Pituitary hormone deficiency, combined, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462790</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462790">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463207"><div><strong>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463207</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463207">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816049"><div><strong>Severe dermatitis-multiple allergies-metabolic wasting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816049</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816049">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799165"><div><strong>Combined oxidative phosphorylation defect type 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799165</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799165">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841011"><div><strong>Pituitary hormone deficiency, combined or isolated, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841011</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined pituitary hormone deficiency-8 (CPHD8) is an autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone (GH; 139250) deficiency with variable deficiencies of other pituitary hormones, including TSH (see 188540), ACTH, and LH/FSH (see 118850). Posterior pituitary deficiency leading to central diabetes insipidus is rare (Bashamboo et al., 2017). Many patients are diagnosed with 'pituitary stalk interruption syndrome' (PSIS), which is characterized by a thin or absent pituitary stalk, absent or ectopic posterior pituitary, and hypoplasia of the anterior pituitary demonstrated on brain imaging, although this classic triad may be incomplete. Brauner et al. (2020) noted the complex phenotypic and genetic heterogeneity of PSIS, and concluded that it is a feature of genetic disorders or syndromes rather than a specific clinical entity. For a discussion of genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845412"><div><strong>Diabetes, deafness, developmental delay, and short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845412</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diabetes, deafness, developmental delay, and short stature syndrome (DDDS) is characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay (Montaser et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845412">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1846947"><div><strong>Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846947</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia-11 with multiple congenital anomalies and dysmorphic facies (THC11) is a syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. The disorder results from constitutive activation of the RAS signaling pathway and can be considered a RASopathy (Niemann et al., 2020; Miller et al., 2022). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1846947">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854023"><div><strong>Rothmund-Thomson syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rothmund-Thomson syndrome type 4 (RTS4) is characterized by severe short stature and microcephaly, widespread poikiloderma, and congenital cataracts and other ocular anomalies. Patients also exhibit sparse hair, facial dysmorphisms, photosensitivity with bullae, dystrophic nails, and bone abnormalities (Di Lazzaro Filho et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854023">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ateleiotic dwarfism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 25</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes, deafness, developmental delay, and short stature syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated growth hormone deficiency type IB</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary hormone deficiency, combined or isolated, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary hormone deficiency, combined, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_209236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary hormone deficiency, combined, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary hormone deficiency, combined, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RHYNS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rothmund-Thomson syndrome, type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe dermatitis-multiple allergies-metabolic wasting syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36904239">Circulating Levels of Nesfatin-1 and Spexin in Children with Prader-Willi Syndrome during Growth Hormone Treatment and Dietary Intervention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gajewska J,
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||
Szamotulska K,
|
||
Klemarczyk W,
|
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Chełchowska M,
|
||
Strucińska M,
|
||
Ambroszkiewicz J</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2023 Mar 1;15(5)
|
||
doi: 10.3390/nu15051240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36904239" target="_blank">36904239</a><a href="/pmc/articles/PMC10005720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19500600">Short-term growth hormone treatment and microcirculation: effects in patients with chronic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nissel R,
|
||
Fischer DC,
|
||
Puhlmann A,
|
||
Holdt-Lehmann B,
|
||
Mitzner A,
|
||
Petzsch M,
|
||
Körber T,
|
||
Tiess M,
|
||
Schmidt R,
|
||
Haffner D</span><br />
|
||
<span class="medgenPMjournal">Microvasc Res</span>
|
||
2009 Sep;78(2):246-52.
|
||
Epub 2009 Jun 3
|
||
doi: 10.1016/j.mvr.2009.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19500600" target="_blank">19500600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18400842">Turner syndrome and clinical treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hjerrild BE,
|
||
Mortensen KH,
|
||
Gravholt CH</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
2008;86:77-93.
|
||
Epub 2008 Apr 9
|
||
doi: 10.1093/bmb/ldn015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18400842" target="_blank">18400842</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(reduced%20circulating%20growth%20hormone%20concentration)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (17)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35659062">Testosterone analysis in prostate cancer patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Winden LJ,
|
||
van Rossum HH</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2022;108:73-104.
|
||
Epub 2021 Aug 23
|
||
doi: 10.1016/bs.acc.2021.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35659062" target="_blank">35659062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30514976">Renal and extrarenal effects of fibroblast growth factor 23.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vervloet M</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Feb;15(2):109-120.
|
||
doi: 10.1038/s41581-018-0087-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30514976" target="_blank">30514976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29947083">A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Insogna KL,
|
||
Briot K,
|
||
Imel EA,
|
||
Kamenický P,
|
||
Ruppe MD,
|
||
Portale AA,
|
||
Weber T,
|
||
Pitukcheewanont P,
|
||
Cheong HI,
|
||
Jan de Beur S,
|
||
Imanishi Y,
|
||
Ito N,
|
||
Lachmann RH,
|
||
Tanaka H,
|
||
Perwad F,
|
||
Zhang L,
|
||
Chen CY,
|
||
Theodore-Oklota C,
|
||
Mealiffe M,
|
||
San Martin J,
|
||
Carpenter TO;
|
||
AXLES 1 Investigators</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2018 Aug;33(8):1383-1393.
|
||
Epub 2018 Jun 26
|
||
doi: 10.1002/jbmr.3475.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29947083" target="_blank">29947083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25294233">Reduction in maternal circulating ouabain impairs offspring growth and kidney development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dvela-Levitt M,
|
||
Cohen-Ben Ami H,
|
||
Rosen H,
|
||
Ornoy A,
|
||
Hochner-Celnikier D,
|
||
Granat M,
|
||
Lichtstein D</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2015 May;26(5):1103-14.
|
||
Epub 2014 Oct 7
|
||
doi: 10.1681/ASN.2014020130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25294233" target="_blank">25294233</a><a href="/pmc/articles/PMC4413757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10207508">Evidence supporting a direct suppressive effect of growth hormone on serum IGFBP-1 levels. Experimental studies in normal, obese and GH-deficient adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nørrelund H,
|
||
Fisker S,
|
||
Vahl N,
|
||
Børglum J,
|
||
Richelsen B,
|
||
Christiansen JS,
|
||
Jørgensen JO</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
1999 Feb;9(1):52-60.
|
||
doi: 10.1054/ghir.1998.0087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10207508" target="_blank">10207508</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20circulating%20growth%20hormone%20concentration%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (142)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35659062">Testosterone analysis in prostate cancer patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Winden LJ,
|
||
van Rossum HH</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2022;108:73-104.
|
||
Epub 2021 Aug 23
|
||
doi: 10.1016/bs.acc.2021.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35659062" target="_blank">35659062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32693362">Pregnancy-associated plasma proteins and Stanniocalcin-2 - Novel players controlling IGF-I physiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frystyk J,
|
||
Teran E,
|
||
Gude MF,
|
||
Bjerre M,
|
||
Hjortebjerg R</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2020 Aug-Oct;53-54:101330.
|
||
Epub 2020 Jul 4
|
||
doi: 10.1016/j.ghir.2020.101330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32693362" target="_blank">32693362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29446010">Phosphaturic mesenchymal tumors: what an endocrinologist should know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boland JM,
|
||
Tebben PJ,
|
||
Folpe AL</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2018 Oct;41(10):1173-1184.
|
||
Epub 2018 Feb 14
|
||
doi: 10.1007/s40618-018-0849-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29446010" target="_blank">29446010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26873451">Acromegaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dineen R,
|
||
Stewart PM,
|
||
Sherlock M</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2017 Jul 1;110(7):411-420.
|
||
doi: 10.1093/qjmed/hcw004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26873451" target="_blank">26873451</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25243756">The future of phosphate binders: a perspective on novel therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cernaro V,
|
||
Santoro D,
|
||
Lucisano S,
|
||
Nicocia G,
|
||
Lacquaniti A,
|
||
Buemi M</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
|
||
2014 Nov;23(11):1459-63.
|
||
Epub 2014 Sep 22
|
||
doi: 10.1517/13543784.2014.962652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25243756" target="_blank">25243756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20circulating%20growth%20hormone%20concentration%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (88)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35659062">Testosterone analysis in prostate cancer patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Winden LJ,
|
||
van Rossum HH</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2022;108:73-104.
|
||
Epub 2021 Aug 23
|
||
doi: 10.1016/bs.acc.2021.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35659062" target="_blank">35659062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29947083">A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Insogna KL,
|
||
Briot K,
|
||
Imel EA,
|
||
Kamenický P,
|
||
Ruppe MD,
|
||
Portale AA,
|
||
Weber T,
|
||
Pitukcheewanont P,
|
||
Cheong HI,
|
||
Jan de Beur S,
|
||
Imanishi Y,
|
||
Ito N,
|
||
Lachmann RH,
|
||
Tanaka H,
|
||
Perwad F,
|
||
Zhang L,
|
||
Chen CY,
|
||
Theodore-Oklota C,
|
||
Mealiffe M,
|
||
San Martin J,
|
||
Carpenter TO;
|
||
AXLES 1 Investigators</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2018 Aug;33(8):1383-1393.
|
||
Epub 2018 Jun 26
|
||
doi: 10.1002/jbmr.3475.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29947083" target="_blank">29947083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26873451">Acromegaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dineen R,
|
||
Stewart PM,
|
||
Sherlock M</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2017 Jul 1;110(7):411-420.
|
||
doi: 10.1093/qjmed/hcw004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26873451" target="_blank">26873451</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26822565">Recombinant IGF-I: Past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bright GM</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2016 Jun;28:62-5.
|
||
Epub 2016 Jan 18
|
||
doi: 10.1016/j.ghir.2016.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26822565" target="_blank">26822565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10207508">Evidence supporting a direct suppressive effect of growth hormone on serum IGFBP-1 levels. Experimental studies in normal, obese and GH-deficient adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nørrelund H,
|
||
Fisker S,
|
||
Vahl N,
|
||
Børglum J,
|
||
Richelsen B,
|
||
Christiansen JS,
|
||
Jørgensen JO</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
1999 Feb;9(1):52-60.
|
||
doi: 10.1054/ghir.1998.0087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10207508" target="_blank">10207508</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20circulating%20growth%20hormone%20concentration%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (193)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195253">Kidney clearance of fibroblast growth factor-23 in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma S,
|
||
Ix JH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2023 Jul 1;32(4):330-334.
|
||
Epub 2023 May 9
|
||
doi: 10.1097/MNH.0000000000000900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195253" target="_blank">37195253</a><a href="/pmc/articles/PMC10442065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34185705">Calcium phosphate microcrystals in the renal tubular fluid accelerate chronic kidney disease progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shiizaki K,
|
||
Tsubouchi A,
|
||
Miura Y,
|
||
Seo K,
|
||
Kuchimaru T,
|
||
Hayashi H,
|
||
Iwazu Y,
|
||
Miura M,
|
||
Battulga B,
|
||
Ohno N,
|
||
Hara T,
|
||
Kunishige R,
|
||
Masutani M,
|
||
Negishi K,
|
||
Kario K,
|
||
Kotani K,
|
||
Yamada T,
|
||
Nagata D,
|
||
Komuro I,
|
||
Itoh H,
|
||
Kurosu H,
|
||
Murata M,
|
||
Kuro-O M</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2021 Aug 16;131(16)
|
||
doi: 10.1172/JCI145693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34185705" target="_blank">34185705</a><a href="/pmc/articles/PMC8363285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26822565">Recombinant IGF-I: Past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bright GM</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2016 Jun;28:62-5.
|
||
Epub 2016 Jan 18
|
||
doi: 10.1016/j.ghir.2016.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26822565" target="_blank">26822565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24578336">The use of fibroblast growth factor 23 testing in patients with kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith ER</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2014 Jul;9(7):1283-303.
|
||
Epub 2014 Feb 27
|
||
doi: 10.2215/CJN.10941013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24578336" target="_blank">24578336</a><a href="/pmc/articles/PMC4078965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10592440">Growth hormone secretagogues in critical illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Berghe G</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1999;51 Suppl 3:21-8.
|
||
doi: 10.1159/000053158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10592440" target="_blank">10592440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20circulating%20growth%20hormone%20concentration%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195253">Kidney clearance of fibroblast growth factor-23 in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma S,
|
||
Ix JH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2023 Jul 1;32(4):330-334.
|
||
Epub 2023 May 9
|
||
doi: 10.1097/MNH.0000000000000900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195253" target="_blank">37195253</a><a href="/pmc/articles/PMC10442065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26822565">Recombinant IGF-I: Past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bright GM</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2016 Jun;28:62-5.
|
||
Epub 2016 Jan 18
|
||
doi: 10.1016/j.ghir.2016.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26822565" target="_blank">26822565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10801966">The role of zinc in growth and cell proliferation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacDonald RS</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
2000 May;130(5S Suppl):1500S-8S.
|
||
doi: 10.1093/jn/130.5.1500S.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10801966" target="_blank">10801966</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10207508">Evidence supporting a direct suppressive effect of growth hormone on serum IGFBP-1 levels. Experimental studies in normal, obese and GH-deficient adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nørrelund H,
|
||
Fisker S,
|
||
Vahl N,
|
||
Børglum J,
|
||
Richelsen B,
|
||
Christiansen JS,
|
||
Jørgensen JO</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
1999 Feb;9(1):52-60.
|
||
doi: 10.1054/ghir.1998.0087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10207508" target="_blank">10207508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8742122">Sex steroid regulation of growth hormone secretion and action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ho KK,
|
||
O'Sullivan AJ,
|
||
Weissberger AJ,
|
||
Kelly JJ</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1996;45(1-2):67-73.
|
||
doi: 10.1159/000184762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8742122" target="_blank">8742122</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20circulating%20growth%20hormone%20concentration%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (126)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/29233786">Insulin-like Growth Factor 1 (IGF-1) as a marker of cognitive decline in normal ageing: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frater J,
|
||
Lie D,
|
||
Bartlett P,
|
||
McGrath JJ</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2018 Mar;42:14-27.
|
||
Epub 2017 Dec 9
|
||
doi: 10.1016/j.arr.2017.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29233786" target="_blank">29233786</a></div>
|
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